ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)

gnomAD frequency: 0.00081  dbSNP: rs61736440
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702716 SCV000831582 likely benign Methylcobalamin deficiency type cblG 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765084 SCV000896293 uncertain significance Methylcobalamin deficiency type cblG; Neural tube defects, folate-sensitive 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097763 SCV001254072 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV000702716 SCV001525858 uncertain significance Methylcobalamin deficiency type cblG 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001547886 SCV001767695 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing Reported in the heterozygous state in a patient with atypical moyamoya by whole exome sequencing who also had a de novo variant in the RNF213 gene that may have been responsible for the phenotype (Harel et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26198278, 30676783)
Ambry Genetics RCV002534405 SCV003645407 uncertain significance Inborn genetic diseases 2021-12-09 criteria provided, single submitter clinical testing The c.1862A>G (p.D621G) alteration is located in exon 18 (coding exon 18) of the MTR gene. This alteration results from a A to G substitution at nucleotide position 1862, causing the aspartic acid (D) at amino acid position 621 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000702716 SCV003811479 uncertain significance Methylcobalamin deficiency type cblG 2022-02-21 criteria provided, single submitter clinical testing

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